ClinVar Miner

Submissions for variant NM_022970.3(FGFR2):c.1087+1319C>G (rs121918494)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000014190 SCV000328397 pathogenic Crouzon syndrome 2016-09-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726654 SCV000701973 pathogenic not provided 2016-10-11 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626619 SCV000747320 likely pathogenic Hypertelorism; High palate; Low-set ears; Cranial asymmetry; Abnormality of the pinna; Downslanted palpebral fissures; Flat occiput; Narrow forehead; Short neck; Hydrocephalus; Brachyturricephaly; Wide anterior fontanel; Facial asymmetry; High forehead; Choanal stenosis; Shallow orbits; Abnormality of the posterior cranial fossa; Deviated nasal septum; Dilation of lateral ventricles; Hypointensity of cerebral white matter on MRI; Abnormality of the zygomatic bone; Mild fetal ventriculomegaly 2017-01-01 criteria provided, single submitter clinical testing
Invitae RCV000655421 SCV000777351 pathogenic FGFR2 related craniosynostosis 2018-11-30 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 347 of the FGFR2 protein (p.Ser347Cys). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the literature in many individuals affected with clinical features of FDFR2-related disorders (PMID: 12884424, 27228464), including several de novo observations (PMID: 7874170, 27683237, 23348274, 20643727). ClinVar contains an entry for this variant (Variation ID: 13271). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000014190 SCV000034438 pathogenic Crouzon syndrome 1994-11-01 no assertion criteria provided literature only

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